Canonical Allele Identifier: CA2466723433
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532654C= , CM000685.2:g.154532654C= GRCh38
NC_000023.10:g.153760869C= , CM000685.1:g.153760869C= GRCh37
NC_000023.9:g.153414063C= NCBI36
NG_009015.2:g.19919G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1200G= ENSP00000377194.2:p.Val400=
ENST00000439227.6:c.1203G= ENSP00000395599.2:p.Val401=
ENST00000696420.1:c.1200G= ENSP00000512615.1:p.Val400=
ENST00000696421.1:c.1200G= ENSP00000512616.1:p.Val400=
ENST00000696422.1:c.1063G=
ENST00000696423.1:c.1066G=
ENST00000696424.1:c.1052G= ENSP00000512619.1:n.1052G=
ENST00000696425.1:c.*113G= ENSP00000512620.1:n.*113G=
ENST00000696426.1:c.*660G= ENSP00000512621.1:n.*660G=
ENST00000696427.1:c.*160G= ENSP00000512622.1:n.*160G=
ENST00000696428.1:c.*1042G= ENSP00000512623.1:n.*1042G=
ENST00000696429.1:c.1200G= ENSP00000512624.1:p.Val400=
ENST00000696430.1:c.1200G= ENSP00000512625.1:p.Val400=
ENST00000393562.10:c.1200G= MANE Select ENSP00000377192.3:p.Val400=
ENST00000369620.6:c.1338G= ENSP00000358633.2:p.Val446=
ENST00000393562.6:c.1290G= ENSP00000377192.2:p.Val430=
ENST00000393564.6:c.1200G= ENSP00000377194.2:p.Val400=
ENST00000490651.1:n.421G=
ENST00000621232.4:c.1200G= ENSP00000483686.1:p.Val400=
NM_000402.4:c.1290G= NP_000393.4:p.Val430=
NM_001042351.2:c.1200G= NP_001035810.1:p.Val400=
XM_005274657.2:c.1293G= XP_005274714.1:p.Val431=
XM_005274658.2:c.1203G= XP_005274715.1:p.Val401=
XM_011531132.1:c.*113G= XP_011529434.1:n.*113G=
NM_001360016.2:c.1200G= MANE Select NP_001346945.1:p.Val400=
NM_001042351.3:c.1200G= NP_001035810.1:p.Val400=